Abstract
Endometriosis is a chronic gynecological disorder affecting the quality of life and fertility of many women around the world. Heterogeneous and non-specific symptoms may lead to a delay in diagnosis, with treatment options limited to surgery and hormonal therapy. Hence, there is a need to better understand the pathogenesis of the disease to improve diagnosis and treatment. Long non-coding RNAs (lncRNAs) have been increasingly shown to be involved in gene regulation but remain relatively under investigated in endometriosis. Mutational and transcriptomic studies have implicated lncRNAs in the pathogenesis of endometriosis. Single-nucleotide polymorphisms (SNPs) in lncRNAs or their regulatory regions have been associated with endometriosis. Genome-wide transcriptomic studies have identified lncRNAs that show deregulated expression in endometriosis, some of which have been subjected to further experiments, which support a role in endometriosis. Mechanistic studies indicate that lncRNAs may regulate genes involved in endometriosis by acting as a molecular sponge for miRNAs, by directly targeting regulatory elements via interactions with chromatin or transcription factors or by affecting signaling pathways. Future studies should concentrate on determining the role of uncharacterized lncRNAs revealed by endometriosis transcriptome studies and the relevance of lncRNAs implicated in the disease by in vitro and animal model studies.
Highlights
Endometriosis is a chronic inflammatory disorder defined by endometrial-like lesions growing ectopically outside of the uterus that affects many reproductive-age women worldwide
We aim to provide a comprehensive picture of the current knowledge of the role of long non-coding RNAs (lncRNAs) in the pathogenesis of endometriosis and the mechanisms by which they affect the disease
In the first reported example of sponging in endometriosis, decreased levels of the H19 lncRNA was shown to be associated with an increase in let-7 miRNA activity, which inhibits IGF1R expression resulting in the reduced proliferation of endometrial stroma cells [53]
Summary
Endometriosis is a chronic inflammatory disorder defined by endometrial-like lesions growing ectopically outside of the uterus that affects many reproductive-age women worldwide. Over 16,000 human lncRNAs are annotated by the GENCODE project, while some other studies have indicated that the total number may be over 100,000 [5] Most of these lncRNAs remain uncharacterized, an increasing number have been shown to have a biological function, often involved in gene regulation [6]. LncRNAs may share miRNA target sequences with mRNAs, thereby reducing miRNA availability to target mRNAs (Figure 1i) [16,17] These studies show that lncRNAs can act at multiple subcellular sites to affect various aspects of cell biology, in most cases they affect either transcription or processing of mRNAs and their steady state levels in the cell. Evidence for the involvement of individual lncRNAs in the pathogenesis of these diseases ranges from a correlation with dysregulated lncRNA expression to detailed mechanistic studies that indicate a functional role in the disease. Given this evidence for the role of lncRNAs in other contexts, in this review, we aim to provide a comprehensive picture of the current state of knowledge over the role of lncRNAs in endometriosis
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